(Q60309352)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

title

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

hypomyelinating leukodystrophy

16 April 2020

main subject

1 reference

inferred from title

author

Eléonore Eymard-Pierre

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Monique Elmaleh-bergès

14

object named as

Monique Elmaleh-Bergès

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

author name string

Imen Dorboz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Hélene Dumay-Odelot

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Karima Boussaid

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Yosra Bouyacoub

4

1 reference

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16 April 2020

Pauline Barreau

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Simon Samaan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Haifa Jmel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Claude Cances

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Céline Bar

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Anne-Lise Poulat

11

1 reference

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16 April 2020

Christophe Rousselle

12

1 reference

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16 April 2020

Florence Renaldo

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Martin Teichmann

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Odile Boespflug-Tanguy

16

1 reference

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16 April 2020

language of work or name

English

0 references

publication date

3 December 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

page(s)

e289

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

16 April 2020

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6283457/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Association of Puralpha with RNAs homologous to 7 SL determines its binding ability to the myelin basic protein promoter DNA sequence.

1 reference

12 December 2020

The RNA cleavage activity of RNA polymerase III is mediated by an essential TFIIS-like subunit and is important for transcription termination

1 reference

12 December 2020

ClusPro: a fully automated algorithm for protein-protein docking

1 reference

12 December 2020

A subcomplex of RNA polymerase III subunits involved in transcription termination and reinitiation

1 reference

12 December 2020

The RIN: an RNA integrity number for assigning integrity values to RNA measurements

1 reference

12 December 2020

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

1 reference

12 December 2020

The expanding RNA polymerase III transcriptome

1 reference

12 December 2020

Mutation of RNA Pol III subunit rpc2/polr3b Leads to Deficiency of Subunit Rpc11 and disrupts zebrafish digestive development.

1 reference

12 December 2020

Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription

1 reference

12 December 2020

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

1 reference

12 December 2020

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

1 reference

12 December 2020

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

1 reference

12 December 2020

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations

1 reference

12 December 2020

Scalable web services for the PSIPRED Protein Analysis Workbench.

1 reference

12 December 2020

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

1 reference

12 December 2020

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

1 reference

12 December 2020

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

12 December 2020

Contributions of in vitro transcription to the understanding of human RNA polymerase III transcription

1 reference

12 December 2020

The Phyre2 web portal for protein modeling, prediction and analysis

1 reference

12 December 2020

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

1 reference

12 December 2020

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.

1 reference

12 December 2020

The ClusPro web server for protein-protein docking

1 reference

12 December 2020

10.1212/NXG.0000000000000289

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30584594%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

PubMed publication ID

30584594

1 reference